Found: 29
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Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator.
- Published in:
- Rheumatology, 2011, v. 50, n. suppl_5, p. v13, doi. 10.1093/rheumatology/ker395
- By:
- Publication type:
- Article
Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.
- Published in:
- Cardiology in the Young, 2024, v. 34, n. 2, p. 401, doi. 10.1017/S1047951123003347
- By:
- Publication type:
- Article
Treatment of the Mucopolysaccharidoses: Reflections on Disease Pathophysiology.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2009, v. 8, n. 4, p. 113
- By:
- Publication type:
- Article
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Diagnosis and management of patients with mitochondrial disease.
- Published in:
- British Columbia Medical Journal, 2011, v. 53, n. 4, p. 177
- By:
- Publication type:
- Article
Primer on mitochondrial disease: Biochemistry, genetics, and epidemiology.
- Published in:
- British Columbia Medical Journal, 2011, v. 53, n. 4, p. 172
- By:
- Publication type:
- Article
Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.
- Published in:
- Glycobiology, 2012, v. 22, n. 4, p. 492, doi. 10.1093/glycob/cwr157
- By:
- Publication type:
- Article
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 281, doi. 10.1111/cge.13583
- By:
- Publication type:
- Article
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
- Published in:
- Angewandte Chemie International Edition, 2022, v. 61, n. 38, p. 1, doi. 10.1002/anie.202207974
- By:
- Publication type:
- Article
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
- Published in:
- Skeletal Radiology, 2014, v. 43, n. 3, p. 359, doi. 10.1007/s00256-013-1797-y
- By:
- Publication type:
- Article
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 355, doi. 10.1007/s10545-011-9369-6
- By:
- Publication type:
- Article
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 275, doi. 10.1002/humu.1380030316
- By:
- Publication type:
- Article
Pharmacokinetics of Sapropterin in Patients with Phenylketonuria.
- Published in:
- Clinical Pharmacokinetics, 2008, v. 47, n. 12, p. 817, doi. 10.2165/0003088-200847120-00006
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- Publication type:
- Article
Crystal diaper syndrome.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1989, v. 140, n. 9, p. 1013
- By:
- Publication type:
- Article
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
- Published in:
- Angewandte Chemie, 2022, v. 134, n. 38, p. 1, doi. 10.1002/ange.202207974
- By:
- Publication type:
- Article
Recombinant proteins for genetic disease.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 6, p. 389, doi. 10.1034/j.1399-0004.1999.550601.x
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- Publication type:
- Article
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2941, doi. 10.1002/ajmg.a.62910
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- Publication type:
- Article
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2425, doi. 10.1002/ajmg.a.61378
- By:
- Publication type:
- Article
Synthesis of enzymatically active human α-l-iduronidase in Arabidopsis cgl (complex glycan-deficient) seeds.
- Published in:
- Plant Biotechnology Journal, 2006, v. 4, n. 2, p. 169, doi. 10.1111/j.1467-7652.2005.00166.x
- By:
- Publication type:
- Article
Murine Mucopolysaccharidosis Type I: Targeted Disruption of the Murine α-l-Iduronidase Gene.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 4, p. 503, doi. 10.1093/hmg/6.4.503
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- Publication type:
- Article
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1311
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- Publication type:
- Article
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 635
- By:
- Publication type:
- Article
Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0124987
- By:
- Publication type:
- Article